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Results for “Recessive Hereditary Disorder (Autosomal)”

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Showing 20 of 0 results

Not applicableStudy completedNCT03478839
What this trial is testing

Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)

Who this might be right for
Generalized Arterial Calcification of InfancyAutosomal Recessive Hypophosphatemic Rickets Type2
National Human Genome Research Institute (NHGRI) 48
Testing effectiveness (Phase 2)WithdrawnNCT06147856
What this trial is testing

A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria

Who this might be right for
Phenylketonuria
ModernaTX, Inc.
Not applicableLooking for participantsNCT06147414
What this trial is testing

Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Who this might be right for
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, IncludingSickle Cell DiseaseCystic Fibrosis+12 more
Assistance Publique - Hôpitaux de Paris 550
Not applicableEnrolling By InvitationNCT06144957
What this trial is testing

SLC13A5 Deficiency Natural History Study - United States Only

Who this might be right for
Citrate Transporter DeficiencyEpilepsyRare Diseases+7 more
TESS Research Foundation 17
Testing effectiveness (Phase 2)Ended earlyNCT03738800
What this trial is testing

A Safety, Efficacy and Systemic Exposure Study of CD5789 Cream in Adults and Adolescents With Lamellar Ichthyosis

Who this might be right for
Lamellar Ichthyosis
Mayne Pharma International Pty Ltd 65
Not applicableEnded earlyNCT02926963
What this trial is testing

Generation of Powerful Biological Tools for Understanding the Pathophysiology of Chronic Granulomatous Disease.

Who this might be right for
Chronic Granulomatous Disease
University Hospital, Grenoble 3
Not applicableStudy completedNCT04912609
What this trial is testing

Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)

Who this might be right for
Hereditary Spastic ParaplegiaSpastic Paraplegia Type 11
IRCCS Fondazione Stella Maris 13
Testing effectiveness (Phase 2)UnknownNCT02061800
What this trial is testing

CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant

Who this might be right for
Chronic Myeloid Leukemia (CML)Acute Myelogenous Leukemia (AML)Myelodysplastic Syndrome (MDS)+3 more
Diane George 14
Not applicableStudy completedNCT04157595
What this trial is testing

Mackenzie's Mission: The Australian Reproductive Carrier Screening Project

Who this might be right for
X-Linked Genetic DiseasesAutosomal Recessive Disorder
Murdoch Childrens Research Institute 18,302
Testing effectiveness (Phase 2)Enrolling By InvitationNCT06253507
What this trial is testing

PCCLCHIM-p47 (Lentiviral Vector Transduced CD34 Plus Cells) in Patients With p47 Autosomal Recessive Chronic Granulomatous Disease (AR-CGD)

Who this might be right for
p47Autosomal RecessiveChronic Granulomatous Disease
National Institute of Allergy and Infectious Diseases (NIAID) 10
Not applicableStudy completedNCT04153110
What this trial is testing

Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxia

Who this might be right for
AtaxiaSpinocerebellar AtaxiasSpinocerebellar Ataxia Type 1+5 more
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia 61
Early research (Phase 1)Active Not RecruitingNCT05734196
What this trial is testing

The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency

Who this might be right for
Ectonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyAutosomal Recessive Hypophosphatemic RicketsGeneralized Arterial Calcification of Infancy+2 more
Inozyme Pharma 16
Not applicableStudy completedNCT05312073
What this trial is testing

Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis

Who this might be right for
Autosomal Recessive Congenital IchthyosisEpidermolytic Ichthyosis
Assistance Publique - Hôpitaux de Paris 18
Testing effectiveness (Phase 2)Enrolling By InvitationNCT06559176
What this trial is testing

The Safety and Efficacy of Prime Editing (PM359) in Participants With p47phox Autosomal Recessive Chronic Granulomatous Disease (CGD )

Who this might be right for
Chronic Granulomatous DiseaseGranulomatous Disease, Chronic
Prime Medicine, Inc. 12
Not applicableStudy completedNCT03013777
What this trial is testing

A Trial of Cognitive Behavioral Therapy in Familial Dysautonomia

Who this might be right for
DysthymiaAnxiety DisordersFamilial Dysautonomia+2 more
NYU Langone Health 15
Not applicableLooking for participantsNCT06435000
What this trial is testing

An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene

Who this might be right for
StargardtStargardt's DiseaseStargardt Disease+1 more
Splice Bio 75
Large-scale testing (Phase 3)Looking for participantsNCT06056297
What this trial is testing

Mavorixafor in Participants With Congenital and Acquired Primary Autoimmune and Idiopathic Chronic Neutropenic Disorders Who Are Experiencing Recurrent and/or Serious Infections

Who this might be right for
Neutropenia
X4 Pharmaceuticals 176
Not applicableAvailableNCT01995305
What this trial is testing

Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

Who this might be right for
Fanconi AnemiaAutosomal or Sex Linked Recessive Genetic DiseaseBone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.+1 more
Xiaofan Zhu
Testing effectiveness (Phase 2)Study completedNCT03041038
What this trial is testing

The Efficacy and Safety of Secukinumab in Patients With Ichthyoses

Who this might be right for
IchthyosisAutosomal Recessive Congenital IchthyosisLamellar Ichthyosis+3 more
Northwestern University 20
Testing effectiveness (Phase 2)Active Not RecruitingNCT06462547
What this trial is testing

ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency

Who this might be right for
Gene MutationsPseudoxanthoma ElasticumArterial Calcification+2 more
Inozyme Pharma 22
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