CHAMP1 Awareness Day Date in the current year: March 20, 2025

Chromosome alignment-maintaining phosphoprotein 1 (CHAMP1) helps control how cells grow and divide, especially in the brain. It plays a role in organizing chromosomes and regulating gene activity. Mutations in the CHAMP1 gene, which codes for this protein, can cause developmental delay and intellectual disability.

Every human organism has two sets of all chromosomes, one inherited from the mother and the other from the father, which means that every gene exists in two variants (alleles). Some genes can tolerate the loss of one of the two alleles, but some, including the CHAMP1 gene, cannot.

The mutation in the CHAMP1 gene that renders one of the two alleles non-functional is called as haploinsufficiency. Due to having a single functioning copy of the gene, individuals with this mutation have a reduction in CHAMP1 protein below the 50% that is necessary for proper development and neurological function. The CHAMP1 mutation is typically de novo, meaning that it occurs spontaneously and is new to the genome, rather than being inherited from parents.

The lack of CHAMP1 in individuals with CHAMP1 mutations can cause a variety of symptoms that can vary in severity. The most common symptoms are developmental delay/intellectual disability and severe speech delay or loss. Other possible symptoms include traits associated with autism spectrum disorder, feeding difficulties, reflux, head and brain abnormalities (microcephaly, structural deformities), muscle weakness (hypotonia), vision problems, sleep problems (apnea, frequent waking), anxiety, incontinence, epilepsy (seizures), cyclic vomiting syndrome, dental problems (small or misaligned teeth), characteristic facial features (low set ears, flat bridge of the nose), and short stature.

Discovered in 2015, the CHAMP1 mutation is an ultra-rare disorder: there are about 100 people diagnosed with it in over 20 countries, with boys and girls affected fairly equally. Because of its rarity and lack of research, there is no cure or even significant treatment for it. As with many other ultra-rare disorders, management focuses on treating individual symptoms and improving overall quality of life.

Prognosis depends largely on the specific symptoms and their severity; even with symptomatic treatment, children affected by a CHAMP1 mutation may have varying levels of functionality. Traditional therapies (speech, physical and occupational therapy) may show some improvement over time.

CHAMP1 Awareness Day was established by the CHAMP1 Research Foundation, which was founded in 2018 to find treatments and eventually a cure for children with CHAMP1 mutations. The main goal of the observance is to raise public awareness about this rare disorder and advocate for research. You can get involved by learning more about CHAMP1 mutations and sharing what you’ve learned with others, donating to the CHAMP1 Research Foundation, and spreading the word on social media using the hashtag #CHAMP1AwarenessDay.