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Clinical trials for Compound heterozygosity

The European Union Clinical Trials Register   allows you to search for protocol and results information on:
  • interventional clinical trials that were approved in the European Union (EU)/European Economic Area (EEA) under the Clinical Trials Directive 2001/20/EC
  • clinical trials conducted outside the EU/EEA that are linked to European paediatric-medicine development

    • EU/EEA interventional clinical trials approved under or transitioned to the Clinical Trial Regulation 536/2014 are publicly accessible through the
    Clinical Trials Information System (CTIS).

    The EU Clinical Trials Register currently displays   44335   clinical trials with a EudraCT protocol, of which   7366   are clinical trials conducted with subjects less than 18 years old.   The register also displays information on   18700   older paediatric trials (in scope of Article 45 of the Paediatric Regulation (EC) No 1901/2006).

    Phase 1 trials conducted solely on adults and that are not part of an agreed paediatric investigation plan (PIP) are not publicly available (see Frequently Asked Questions ).  
     
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    12 result(s) found for: Compound heterozygosity. Displaying page 1 of 1.
    EudraCT Number: 2015-003031-35 Sponsor Protocol Number: R04049 Start Date*: 2015-11-20
    Sponsor Name:Central Manchester University Hospitals NHS Foundation Trust
    Full Title: A Single Centre Study Investigating the Safety and Efficacy of an Immune Modulation Regimen in Mitigating the Alloimmune Response to Intravenous Laronidase in Infants With Severe Mucopolysaccharido...
    Medical condition: Severe Mucopolysaccharidosis Type I (Hurler syndrome, MPS IH)
    Disease: Version SOC Term Classification Code Term Level
    18.1 100000004850 10028094 Mucopolysaccharidosis IH LLT
    Population Age: Infants and toddlers, Children, Under 18 Gender: Male, Female
    Trial protocol: GB (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2021-002728-19 Sponsor Protocol Number: PQ-421a-004 Start Date*: Information not available in EudraCT
    Sponsor Name:ProQR Therapeutics IV B.V.
    Full Title: A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of QR-421a in Subjects with Retinitis Pigmentosa (RP) due to Mutations in Exon 13 of t...
    Medical condition: Retinitis Pigmentosa (RP) due to Mutations in Exon 13 of the USH2A Gene
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10038914 Retinitis pigmentosa PT
    Population Age: Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: FR (Completed) DE (Completed) NO (Prematurely Ended) DK (Completed) NL (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2020-000535-45 Sponsor Protocol Number: PQ-110-005 Start Date*: 2020-11-13
    Sponsor Name:ProQR Therapeutics IV B.V.
    Full Title: An Open-Label, Dose Escalation and Double-Masked, Randomized, Controlled Study to Evaluate the Safety and Tolerability of Sepofarsen in Pediatric Subjects <8 Years of Age with Leber Congenital Amau...
    Medical condition: Leber Congenital Amaurosis 10 (LCA10) due to c.2991+1655A>G mutation (p.Cys998X) in the CEP290 Gene
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10070667 Leber's congenital amaurosis PT
    Population Age: Children, Under 18 Gender: Male, Female
    Trial protocol: BE (Completed) DE (Completed) GB (GB - no longer in EU/EEA) NL (Ongoing) IT (Completed)
    Trial results: View results
    EudraCT Number: 2021-002729-74 Sponsor Protocol Number: PQ-421a-003 Start Date*: Information not available in EudraCT
    Sponsor Name:ProQR Therapeutics IV B.V.
    Full Title: A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of QR-421a in Subjects with Retinitis Pigmentosa (RP) due to Mutations in Exon 13 of t...
    Medical condition: Retinitis Pigmentosa (RP) due to Mutations in Exon 13 of the USH2A Gene
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10038914 Retinitis pigmentosa PT
    Population Age: Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Prematurely Ended) NO (Completed) DK (Completed) NL (Ongoing) IT (Prematurely Ended) ES (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2015-003142-51 Sponsor Protocol Number: DCR-PH1-101 Start Date*: 2016-04-11
    Sponsor Name:Dicerna Pharmaceuticals, Inc.
    Full Title: A Phase 1 Study of DCR-PH1 in Patients with Primary Hyperoxaluria Type 1 (PH1)
    Medical condition: Primary Hyperoxaluria Type 1
    Disease: Version SOC Term Classification Code Term Level
    18.0 10038359 - Renal and urinary disorders 10020703 Hyperoxaluria PT
    Population Age: Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: GB (Completed) NL (Completed)
    Trial results: View results
    EudraCT Number: 2017-000813-22 Sponsor Protocol Number: PQ-110-001 Start Date*: 2017-06-19
    Sponsor Name:ProQR Therapeutics
    Full Title: An Open-Label, Single Arm, Multiple Dose, Dose Escalation Study to Evaluate the Safety and Tolerability of QR-110 in Subjects with Leber’s Congenital Amaurosis (LCA) due to c.2991+1655A>G Mutation ...
    Medical condition: Leber’s Congenital Amaurosis (LCA) due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene
    Disease: Version SOC Term Classification Code Term Level
    19.1 10010331 - Congenital, familial and genetic disorders 10070667 Leber's congenital amaurosis PT
    Population Age: Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: BE (Completed)
    Trial results: View results
    EudraCT Number: 2007-001163-30 Sponsor Protocol Number: ALID02307 Start Date*: 2015-05-11
    Sponsor Name:Genzyme, a Sanofi Company
    Full Title: A trial of antigen-specific immune tolerance induction in mucopolysaccharidosis I (MPS I) patients initiating enzyme replacement therapy with Aldurazyme® (laronidase)
    Medical condition: Mucopolysaccharidosis I
    Disease: Version SOC Term Classification Code Term Level
    18.0 10010331 - Congenital, familial and genetic disorders 10056886 Mucopolysaccharidosis I PT
    Population Age: Infants and toddlers, Children, Under 18 Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2007-002328-14 Sponsor Protocol Number: OC3-DB-01 Start Date*: 2008-01-10
    Sponsor Name:OxThera Inc.
    Full Title: A Phase 2/3, Double-Blind, Randomized, Placebo-Controlled, Multi-center, International Study to Evaluate the Efficacy and Safety of Oxabact(TM) to Reduce Urinary Oxalate in Subjects with Primary H...
    Medical condition: primary hyperoxaluria
    Disease: Version SOC Term Classification Code Term Level
    9.1 10020703 Hyperoxaluria LLT
    Population Age: Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: FR (Completed) GB (Completed) NL (Completed) DE (Completed)
    Trial results: View results
    EudraCT Number: 2018-002433-38 Sponsor Protocol Number: PQ-421a-001 Start Date*: 2019-02-15
    Sponsor Name:ProQR Therapeutics
    Full Title: A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects with Retinitis Pigmentosa (RP) due to Mutations in Exon 13 of the USH2A Gene
    Medical condition: Retinitis Pigmentosa (RP) due to Mutations in Exon 13 of the USH2A Gene
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10038914 Retinitis pigmentosa PT
    Population Age: Adults Gender: Male, Female
    Trial protocol: FR (Completed)
    Trial results: View results
    EudraCT Number: 2018-002087-12 Sponsor Protocol Number: BN40703 Start Date*: 2018-12-07
    Sponsor Name:F. Hoffmann-La Roche Ltd
    Full Title: AN OPEN-LABEL STUDY OF RISDIPLAM IN INFANTS WITH GENETICALLY DIAGNOSED AND PRESYMPTOMATIC SPINAL MUSCULAR ATROPHY
    Medical condition: Spinal Muscular Atrophy (SMA)
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10041582 Spinal muscular atrophy PT
    20.0 10010331 - Congenital, familial and genetic disorders 10079419 Spinal muscular atrophy pre-symptomatic LLT
    Population Age: Newborns, Infants and toddlers, Under 18 Gender: Male, Female
    Trial protocol: BE (Trial now transitioned) PL (Trial now transitioned) IT (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2018-003501-25 Sponsor Protocol Number: PQ-110-003 Start Date*: 2019-02-28
    Sponsor Name:ProQR Therapeutics IV B.V.
    Full Title: A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety, Tolerability and Systemic Exposure of QR-110 in Subjects with Leber’s Congenital Amaurosis (LCA) due t...
    Medical condition: Leber’s Congenital Amaurosis (LCA) due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10070667 Leber's congenital amaurosis PT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: DE (Completed) NL (Ongoing) BE (Completed) FR (Ongoing) GB (GB - no longer in EU/EEA) IT (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2016-000778-40 Sponsor Protocol Number: BP39056 Start Date*: 2017-01-05
    Sponsor Name:F. Hoffmann-La Roche Ltd
    Full Title: A TWO PART SEAMLESS, OPEN-LABEL, MULTICENTER STUDY TO INVESTIGATE THE SAFETY, TOLERABILITY, PHARMACOKINETICS, PHARMACODYNAMICS AND EFFICACY OF RO7034067 IN INFANTS WITH TYPE1 SPINAL MUSCULAR ATROPHY
    Medical condition: Type 1 Spinal Muscular Atrophy (SMA)
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10041582 Spinal muscular atrophy PT
    Population Age: Infants and toddlers, Under 18 Gender: Male, Female
    Trial protocol: DE (Completed) ES (Prematurely Ended) IT (Completed) BE (Completed) FR (Completed) PL (Completed) HR (Completed)
    Trial results: View results
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    The status and protocol content of GB trials is no longer updated since 1 January 2021. For the UK, as of 31 January 2021, EU Law applies only to the territory of Northern Ireland (NI) to the extent foreseen in the Protocol on Ireland/NI. Legal notice
    As of 31 January 2023, all EU/EEA initial clinical trial applications must be submitted through CTIS . Updated EudraCT trials information and information on PIP/Art 46 trials conducted exclusively in third countries continues to be submitted through EudraCT and published on this website.

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