COACH Syndrome

Last update 23 Jan 2025

Basic Info

Synonyms

CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS, COACH (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome, COACH SYNDROME

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Introduction

A very rare subtype of Joubert syndrome with the neurological features of Joubert Syndrome and congenital hepatic fibrosis. Prevalence is unknown. The age of onset and severity of hepatic manifestations are variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis but these are not mandatory features. Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1).

Clinical Trials associated with COACH Syndrome

NCT05853861

/ RecruitingNot ApplicableIIT

Promoting Early Intervention Timing and Attention to Language

The proposed study (PETAL: Promoting Early intervention Timing and Attention to Language) aims to determine the timing of intervention among infants with Increased Likelihood for Autism (ILA; at risk for autism by virtue of having an older sibling with autism) on communication and language outcomes at 24 months. Results of this study will determine when (9 vs 12 vs 15 months), and based on which measures (brain, language, or their combination) to augment parental support with a specialized parent-mediated coaching intervention for optimal outcomes on communication and language at 24 months.
Children will be recruited at 6-8 months of age and will begin with entry assessments. All children will first begin with the MONITOR condition (using Ages & Stages Questionnaire (ASQ-3) and activity cards. Then when the child is 9 months, they will be randomized to continue with MONITOR condition or COACH condition (incorporates JASPER intervention and Babble Bootcamp) after second set of assessments. There are a total of 6 assessment timepoints (6-8 months of age, 9 months of age, 12 months of age, 15 months of age, 18 months of age, and 24 months of age). At time points of 9months and 12 months, the child will be randomized to COACH or MONITOR conditions. Once the child is randomized to COACH condition, they will continue with that condition until they terminate the study at 24 months. At the 15 months timepoint, there will no longer be a randomization. Children that were in the MONITOR condition will change to the COACH condition until they terminate the study.

Start Date01 Jul 2024

Sponsor / Collaborator

University of California, Los Angeles

100 Clinical Results associated with COACH Syndrome

100 Translational Medicine associated with COACH Syndrome

0 Patents (Medical) associated with COACH Syndrome

Literatures (Medical) associated with COACH Syndrome

01 Feb 2024·Pediatric Transplantation

The role of liver transplantation in COACH syndrome (Joubert syndrome with congenital hepatic fibrosis): A review of the literature

Review

Author: Sakamoto, Seisuke ; Okada, Noriki ; Shimizu, Seiichi ; Kodama, Tasuku ; Abbas, Syed ; Nakao, Toshimasa ; Yanagi, Yusuke ; Komine, Ryuji ; Fukuda, Akinari ; Kasahara, Mureo ; Uchida, Hajime ; Chen, Lijian

AbstractBackgroundCOACH syndrome is a rare autosomal recessive genetic disease characterized by liver fibrosis, which leads to severe complications related to portal hypertension. However, only a few patients with COACH syndrome undergoing liver transplantation (LT) have been reported.Materials and MethodsWe herein report the outcomes of four children who underwent LT for COACH syndrome at our institute and review three previously reported cases to elucidate the role of LT in COACH syndrome.ResultsAll four patients in our institute were female, and three received living donors LT. All patients were diagnosed with COACH syndrome by genetic testing. LT was performed in these patients at 3, 7, 9, and 14 years old. The indication for LT was varices related to portal hypertension in all patients. One showed an intrapulmonary shunt. Blood tests revealed renal impairment due to nephronophthisis in three patients, and one developed renal insufficiency after LT. The liver function was maintained in all patients. A literature review revealed detailed information for three more patients. The indication for LT in these three cases was portal hypertension, such as bleeding from esophageal varices. One patient had chronic renal failure on hemodialysis at LT and underwent combined liver and kidney transplantation. Of these three previous patients, one died from hepatic failure due to de novo HCV infection 3 years after LT.ConclusionsLT should be considered an effective treatment for COACH syndrome in patients with severe portal hypertension. However, a detailed follow‐up of the renal function is necessary.

01 Jan 2024·Nephron

Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature

Review

Author: Dantuma, Maisie I ; Sambharia, Meenakshi ; Mansilla, M Adela ; Bathla, Girish ; Donato, Francisco ; Thomas, Christie P ; Freese, Margaret E ; Abukhiran, Ibrahim M M

The clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) characterize the rare autosomal recessive multisystem disorder called COACH syndrome. COACH syndrome belongs to the spectrum of Joubert syndrome and related disorders (JSRDs) and liver involvement distinguishes COACH syndrome from the rest of the JSRD spectrum. Developmental delay and oculomotor apraxia occur early but with time, these can improve and may not be readily apparent or no longer need active medical management. Congenital hepatic fibrosis and renal disease, on the other hand, may develop late, and the temporal incongruity in organ system involvement may delay the recognition of COACH syndrome. We present a case of a young adult presenting late to a Renal Genetics Clinic for evaluation of renal cystic disease with congenital hepatic fibrosis, clinically suspected to have autosomal recessive polycystic kidney disease. Following genetic testing, a reevaluation of his medical records from infancy, together with reverse phenotyping and genetic phasing, led to a diagnosis of COACH syndrome.

24 Nov 2023·Medicine

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report

Article

Author: Duque-Cordoba, Paola Andrea ; Gutierrez-Medina, Juan David ; Diaz-Ordoñez, Lorena ; Pachajoa, Harry

Introduction:Joubert syndrome is a rare disease of genetic origin with autosomal recessive inheritance and extreme genetic heterogeneity with more than 40 causative genes. Joubert syndrome 7 is caused by mutations in the RPGRIP1L gene.Patient concerns:Our report describes a pediatric patient with clinical features compatible with JS type 7 such as hypotonia, developmental delay and aplasia of the cerebellar vermis.Diagnosis:The clinical features and the MRI of the head and neck which showed alterations at the level of the posterior fossa, with absence of the vermis and horizontal disposition of the cerebellar peduncles, were compatible with Joubert syndrome. Whole exome sequencing detected the variants RPGRIP1L (NM_015272.2) c.697A > T (p. Lys233Ter) and RPGRIP1L (NM_015272.2) c.3545 del (p.Pro1182LeufsTer25).Interventions:Resection was performed to correct the polydactyly. At age 2 years umbilical hernia, adenoid surgery and ventilatory tubes surgery were performed. Renal biopsy confirmed interstitial fibrosis and focally accentuated mild tubular atrophy with focal tubular hypertrophy, compatible with the clinical suspicion of Joubert syndrome. Congenital hip dislocation surgery was performed. The patient underwent surgery for correction of concomitant divergent strabismus and continued with glasses for astigmatism and hyperopia.Outcomes:Sanger sequencing confirmed the patient´s results and the father was found to be a carrier of RPGRIP1L (NM_015272.2) c.697A > T (p. Lys233Ter) and the mother and maternal grandmother as carriers of RPGRIP1L (NM_015272.2) c.3545del (p.Pro1182LeufsTer25). RPGRIP1L:c.3545del novel variant is a deletion which changes the reading frame, altering the RPGR1_C terminal domain and giving rise to an incomplete protein whose functions will be altered.Conclusion:This is the first genetically confirmed case of JS in Colombia, the first carrier of biallelic RPGRIP1L gene mutations with hip dislocation and incomplete glottic closure and the first report of the novel c.3545del likely pathogenic variant causing JS.

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COACH Syndrome

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