Clinical trials: Genetic Syndrome
Sanfilippo Syndrome (MPS III)
Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB
The goal of this clinical trial is to learn if one infusion of rAAV9-CMV-hNAGLUop can treat patients with Sanfilippo syndrome (MPS III) 6 months or older.
- Trial name
- NCT07818759
- Testing
- rAAV9-CMV-hNAGLUop
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- NeuroGT
Rett Syndrome
Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
- Trial name
- ASPIRE (NCT07480564)
- Testing
- TSHA-102
- Where
- 3 sites in United States
- Volunteers
- 4 people
- Sponsor
- Taysha Gene Therapies, Inc.
Fragile X Syndrome (FXS), Fragile X Syndrome
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
- Trial name
- FXS-CTH120-01 (NCT07654114)
- Testing
- CTH120
- Where
- 2 sites in Spain
- Volunteers
- 30 people
- Sponsor
- Connecta Therapeutics, S.L.
Rett Syndrome
A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)
The primary objectives of this study are to evaluate the safety of a single intrathecal (IT) dose of TSHA-102 in females with typical Rett syndrome, to select the TSHA-102 dose with the best benefit/risk profile based on the…
- Trial name
- NCT05606614
- Testing
- TSHA-102
- Where
- 9 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Taysha Gene Therapies, Inc.
Rett Syndrome
A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett Syndrome
This study will evaluate the efficacy and safety profiles of the investigational gene therapy, NGN-401, in females with typical Rett syndrome.
- Trial name
- NCT05898620
- Testing
- NGN-401
- Where
- 16 sites in United States, Australia and 1 more
- Volunteers
- 33 people
- Sponsor
- Neurogene Inc.
Fanconi Anemia Complementation Group A, Fanconi Anemia
Long-Term Follow-up of Subjects With Fanconi Anaemia Subtype A Treated With ex Vivo Gene Therapy
This is a long-term safety and efficacy follow-up study for subjects with Fanconi Anaemia Subtype A who have been treated with ex vivo gene therapy on the FANCOLEN-I trial.
- Trial name
- NCT04437771
- Testing
- Safety and efficacy assessments
- Where
- Spain
- Volunteers
- 9 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Rett Syndrome
To Investigate the Efficacy of Treatment With Oral NA-921 (Bionetide) Versus Placebo in Females With Rett Syndrome
Primary Objective • To investigate the efficacy of treatment with oral Bionetide versus placebo in girls and women with Rett syndrome Key Secondary Objective To investigate the efficacy of treatment with oral Bionetide versus…
- Trial name
- NCT06840496
- Testing
- Bionetide
- Where
- 18 sites in United States, Australia
- Volunteers
- 210 people
- Sponsor
- Biomed Industries, Inc.
Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form
A Trial of Setmelanotide in Patients With Congenital Hypothalamic Obesity (Sub-study of NCT05774756)
This is a sub-study of Study RM-493-040 (NCT05774756). The goal of this sub-study is to learn how well Setmelanotide works to improve weight reduction, hunger, and quality of life in patients 4 years of age and older with…
- Conditions
- Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form, Septo-Optic Dysplasia, Optic Nerve Hypoplasia
- Trial name
- NCT06760546
- Testing
- Setmelanotide
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 39 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Rett Syndrome
To Study the Efficacy & Safety of Oral NA-921 (Bionetide) in Girls and Women with Rett Syndrome
To study the efficacy \& safety of oral Bionetide versus placebo in girls and women with Rett syndrome
- Trial name
- NCT06849973
- Testing
- Drug: Bionetide
- Where
- 16 sites in United States, Australia
- Volunteers
- 187 people
- Sponsor
- Biomed Industries, Inc.
Fragile X Syndrome
CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction
The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.
- Trial name
- FIH-CTH120 (NCT06480968)
- Testing
- CTH120
- Where
- Spain
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Familial Chylomicronemia Syndrome
Olezarsen Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS)
The purpose of the Expanded Access Program is to provide pre-approval access of olezarsen to eligible patients with Familial Chylomicronemia Syndrome (FCS).
- Trial name
- NCT06360237
- Testing
- Olezarsen
- Where
- United States
- Sponsor
- Ionis Pharmaceuticals, Inc.
Fragile X Syndrome, FXS
A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome
This is a single-center, randomized, double-blind, 2-period crossover study to explore the effects of BPN14770 on cognitive function and behavior in subjects with Fragile X Syndrome.
- Conditions
- Fragile X Syndrome, FXS, Fra(X) Syndrome
- Trial name
- NCT03569631
- Testing
- BPN14770
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Tetra Discovery Partners
Nervous System Disorder, Genetic Syndrome
Intra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Teleangiectasia Patients
The study has the aim to evaluate the improvement in CNS symptoms measured by International Co-operative Ataxia Rating Scale (ICARS) in patients with ataxia teleangectasia (AT), during a period of treatment with ERY-DEX…
- Trial name
- IEDAT-01 (NCT01255358)
- Testing
- Dexamethasone
- Where
- 2 sites in Italy
- Volunteers
- 22 people
- Sponsor
- Quince Therapeutics S.p.A.
Ataxia Telangiectasia, Genetic Syndrome
Extension Treatment Using EryDex System in Patients With AT Who Participated in the ATTeST-IEDAT-02-2015 Study
Primary Objective To monitor and evaluate the long-term safety and tolerability of EDS-EP in AT patients. Secondary Objective To evaluate the long-term effect of EDS-EP on health-related Quality of Life (QoL; EQ-5D-5L scale).
- Trial name
- OLE-IEDAT (NCT03563053)
- Testing
- EryDex System
- Where
- 17 sites in United States, Australia and 9 more
- Volunteers
- 104 people
- Sponsor
- Quince Therapeutics S.p.A.
Retinitis Pigmentosa, Usher Syndrome Type 2
An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
PQ-421a-002 (Helia) is an open-label, extension study to evaluate the safety, tolerability and efficacy of QR 421a (ultevursen) administered via intravitreal (IVT) injection in one or both eyes, in subjects ≥ 12 years of age with…
- Trial name
- HELIA (NCT05085964)
- Testing
- RNA antisense oligonucleotide for intravitreal injection
- Where
- 7 sites in United States, Canada and 1 more
- Volunteers
- 21 people
- Sponsor
- Laboratoires Thea
Nervous System Disease, Genetic Syndrome
Intra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Telangiectasia Patients
Objectives: The objective of study was to evaluate the safety and the efficacy of EryDex (Dexamethasone sodium phosphate encapsulated in autologous erythrocytes, using the EryDex System - EDS) at two dose levels (low dose and…
- Trial name
- ATTeST (NCT02770807)
- Testing
- EryDex Low dose DSP, EryDex High dose DSP
- Where
- 22 sites in United States, Australia and 10 more
- Volunteers
- 176 people
- Sponsor
- Quince Therapeutics S.p.A.
Confirmed Genetic Diagnosis of Prader-Willi Syndrome
Co-administration of Tesofensine/Metoprolol in Subjects With Prader-Willi Syndrome (PWS)
Two-centre, double-blind, placebo-controlled, randomized, and multiple-dose clinical study followed by two open label extension periods.
- Trial name
- 2016-003694-18 (NCT03149445)
- Testing
- Tesofensine/Metoprolol
- Where
- 2 sites in Czechia, Hungary
- Volunteers
- 18 people
- Sponsor
- Saniona
Genetic Disorder, Prader-Willi Syndrome
Retrospective Observational Study on Efficacy and Safety of Norditropin® in Children With Prader-Willi Syndrome
This study is conducted in Europe. The aim of this observational study is to collect data from children with Prader-Willi Syndrome, who have been treated off-label with Norditropin® for more than 12 months to seek approval for…
- Trial name
- NCT00705172
- Testing
- somatropin
- Where
- 3 sites in Denmark, Germany and 1 more
- Volunteers
- 41 people
- Sponsor
- Novo Nordisk A/S
Genetic Obesity, Obesity
Setmelanotide Phase 2 Treatment Trial in Participants With Rare Genetic Disorders of Obesity
The purpose of the study was to determine the effect of setmelanotide (RM-493) on weight, hunger assessments, and other factors in participants with rare genetic disorders of obesity.
- Conditions
- Genetic Obesity, Obesity, Obesity Due to Melanocortin 4 Receptor Deficiency
- Trial name
- NCT03013543
- Testing
- Setmelanotide
- Where
- 58 sites in United States, Canada and 7 more
- Volunteers
- 213 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.